Canonical Allele Identifier: CA401031197

Gene: TSEN54

Linked Data

• MyVariant Identifiers: chr17:g.73520393A>T (hg19) ; chr17:g.75524312A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75524312A>T , CM000679.2:g.75524312A>T	GRCh38
NC_000017.10:g.73520393A>T , CM000679.1:g.73520393A>T	GRCh37
NC_000017.9:g.71031988A>T	NCBI36
NG_013041.1:g.12785A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333213.11:c.1481A>T MANE Select	ENSP00000327487.6:p.Gln494Leu
ENST00000434205.8:c.1178A>T	ENSP00000406559.4:p.Gln393Leu
ENST00000545228.3:c.1669A>T	ENSP00000438169.3:p.Arg557Ter
ENST00000577197.2:n.679A>T
ENST00000579449.2:n.2221A>T
ENST00000580013.6:n.2625A>T
ENST00000679370.1:n.3003A>T
ENST00000679429.1:c.*939A>T	ENSP00000505403.1:n.*939A>T
ENST00000679443.1:n.1550A>T
ENST00000679782.1:c.*180A>T	ENSP00000505995.1:n.*180A>T
ENST00000679919.1:n.1752A>T
ENST00000679928.1:c.*2033A>T	ENSP00000506071.1:n.*2033A>T
ENST00000680528.1:n.2447A>T
ENST00000680999.1:c.1694A>T	ENSP00000504984.1:p.Gln565Leu
ENST00000681282.1:c.*1668A>T	ENSP00000506339.1:n.*1668A>T
ENST00000333213.10:c.1481A>T	ENSP00000327487.6:p.Gln494Leu
ENST00000545228.2:c.758A>T
ENST00000577197.1:n.229A>T
ENST00000579449.1:n.678A>T
NM_207346.2:c.1481A>T	NP_997229.2:p.Gln494Leu
XM_005257229.2:c.1669A>T	XP_005257286.1:p.Arg557Ter
XM_006721821.2:c.1366A>T	XP_006721884.1:p.Arg456Ter
XM_011524616.1:c.1552A>T	XP_011522918.1:p.Arg518Ter
XM_011524617.1:c.*63A>T	XP_011522919.1:n.*63A>T
XM_011524618.1:c.1364A>T	XP_011522920.1:p.Gln455Leu
XR_243646.2:n.1713A>T
XM_005257229.4:c.1669A>T	XP_005257286.1:p.Arg557Ter
XR_001753015.1:n.86T>A
XR_001753016.1:n.87T>A
XR_243646.4:n.1719A>T
NM_207346.3:c.1481A>T MANE Select	NP_997229.2:p.Gln494Leu